MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy (Q42688146)

4 November 2017

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy (English)

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4 November 2017

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4 November 2017

Lorena Travaglini

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Stefania Petrini

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Stefania Petrini

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Carlo Dionisi-Vici

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Carlo Dionisi-Vici

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Teresa Rizza

5

object named as

Teresa Rizza

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4 November 2017

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Rosalba Carrozzo

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4 November 2017

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Diego Martinelli

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4 November 2017

Christian A Drouin

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4 November 2017

Irene Ceballos-Picot

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4 November 2017

Pascale de Lonlay

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4 November 2017

Maya El Hachem

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4 November 2017

Laurence Hubert

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4 November 2017

Alexandre Montpetit

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4 November 2017

Giuliano Torre

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4 November 2017

language of work or name

English

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publication date

18 February 2013

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4 November 2017

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4 November 2017

136

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4 November 2017

Pt 3

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4 November 2017

872-881

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Genetic analyses of adaptin function from yeast to mammals.

4 November 2017

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Multiple organelle-targeting signals in the N-terminal portion of peroxisomal membrane protein PMP70

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Recognition of dileucine-based sorting signals from HIV-1 Nef and LIMP-II by the AP-1 gamma-sigma1 and AP-3 delta-sigma3 hemicomplexes

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Identification of genes involved in the toxic response of Saccharomyces cerevisiae against iron and copper overload by parallel analysis of deletion mutants

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Studies on endocytic mechanisms of the Menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the Menkes protein.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Function and regulation of human copper-transporting ATPases

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Interactions between adaptor protein-1 of the clathrin coat and microtubules via type 1a microtubule-associated proteins

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

The Menkes copper transporter is required for the activation of tyrosinase

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Expression of prion protein increases cellular copper binding and antioxidant enzyme activities but not copper delivery

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Neonatal Erythroderma as a First Manifestation of Menkes Disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT012

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT012

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4 November 2017

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